广西壮族颅内动脉瘤患者血管内皮素受体A基因rs6841581位点多态性观察被引量：2

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摘要目的观察广西壮族颅内动脉瘤(IA)患者血管内皮素受体A(EDNRA)基因rs6841581位点的多态性。方法广西壮族囊状IA患者87例(观察组),健康查体对照者111例(对照组),使用PCR-RFLP方法检测两组EDNRA基因rs6841581位点基因型和等位基因频率分布。结果观察组EDNRA基因rs6841581位点纯合子GG基因型频率在隐性遗传模式下显著高于对照组(P<0.05);观察组男性IA患者等位基因G频率分布高于对照组(P<0.05);观察组单发、多发者基因型和等位基因频率分布无显著差异。结论广西壮族IA患者存在EDNRA基因rs6841581位点多态性,GG基因型可能是IA的易感基因型。

作者魏晓勇叶子明周瑜秦超

机构地区武汉大学人民医院广西医科大学第一附属医院

出处《山东医药》 CAS 2018年第27期69-71,共3页 Shandong Medical Journal

关键词颅内动脉瘤血管内皮素受体A 基因多态性

分类号 R543.1 [医药卫生—心血管疾病]

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1李晓波,吴波,曾义,李志立,黄光富,杨正林.EDNRA和JDP2基因与中国汉族人群散发颅内动脉瘤关联分析[J].中华神经医学杂志,2014,13(4):383-387. 被引量：3

二级参考文献19

1Lindgaard L, Eskesen V, Gjerris F, et al. Familial aggregation of intracranial aneurysms in an Inuit patient population in Kalaallit Nunaat(Crreenland)[J]. Neurosurgery, 2003, 52(2): 357-362.
2Ruigro&YM, Rio&el GJ, Van't Slot R, et al. Evidence in favor of the Contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms [J]. Hum Mol Genet, 2006, 15 (22): 3361-3368.
3Krischek B, Tajima A, Akagawa H, et al. Association of the Jun dimerization protein 2 gene with intracranial aneurysms in Japanese and Korean cohorts as compared to a Dutch cohort [J]. Neuroscience, 2010, 169(1): 339-343.
4Low SK, Takahashi A, Cha PC, et al. Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA[J]. Hum Mol Genet, 2012, 21(9): 2102-2110.
5Yasuno K, Bakircioglu M, Low SK, et al. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk[J]. Proc Natl Acad Sci U S A, 2011, 108(49): 19707-19712.
6Vlak MH, Rinkel GJ, Greebe P, et al. Independent risk factors for intracranial aneurysms and their joint effect: a case-control study [J]. Stroke, 2013, 44(4): 984-987.
7Feigin VL, Rinkel GJ, Lawes CM, et al. Risk factor for subarachnoid hemorrhage:an updated systematic review of epidemiological studies[J]. Stroke, 2005, 36(12): 2773-2780.
8Aronheim A, Zandi E, Hennemarm H, et al. Isolation of an AP-1 repressor by a novel method for detecting protein-protein interactions[J]. Mol Cell Biol, 1997, 17(6): 3094-3102.
9Jochum W, Passegne E, Wagner EF. AP-1 in mouse development and tumorigenesis[J]. Oncogene, 2001, 20(19): 2401-2412.
10Lerdrup M, Holmberg C, Dietrich N, et al. Depletion of the AP-1 repressor JDP2 induces cell death similar to apoptosis[J]. Biochim Biophys Acta, 2005, 1745(1): 29-37.